A novel homozygous NHLRC1 variant in siblings with Lafora disease presenting with myoclonic seizures.

Wang X, Yin Z, Liu Y.

DOI: 10.1002/epd2.70336
Published: 2026-07-09
Container: Epileptic Disord
Publisher: Not recorded
Open access: no

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Cite this work

BibTeX

@article{allodium:10.1002/epd2.70336,
  title = {A novel homozygous NHLRC1 variant in siblings with Lafora disease presenting with myoclonic seizures.},
  author = {Wang X and  Yin Z and  Liu Y.},
  year = {2026},
  journal = {Epileptic Disord},
  doi = {10.1002/epd2.70336},
  url = {https://doi.org/10.1002/epd2.70336}
}

RIS

TY  - JOUR
TI  - A novel homozygous NHLRC1 variant in siblings with Lafora disease presenting with myoclonic seizures.
AU  - Wang X
AU  -  Yin Z
AU  -  Liu Y.
PY  - 2026
JO  - Epileptic Disord
DO  - 10.1002/epd2.70336
UR  - https://doi.org/10.1002/epd2.70336
ER  -

APA

X, W., Z, Y., & Y., L. (2026). A novel homozygous NHLRC1 variant in siblings with Lafora disease presenting with myoclonic seizures.. Epileptic Disord. https://doi.org/10.1002/epd2.70336

Source records

europe-pmc · retrieved 2026-09-26T12:40:59.717Z